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Metadata
ID DOID:0110275
Name autosomal recessive limb-girdle muscular dystrophy type 2A
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.
https://www.ncbi.nlm.nih.gov/pubmed/7720071
Xrefs

GARD:3845

ICD10CM:G71.0

OMIM:253600

ORDO:267

Subsets

DO_rare_slim

Synonyms

Leyden-Moebius muscular dystrophy [EXACT]

LGMD2A [EXACT]

limb-girdle muscular dystrophy due to calpain deficiency [EXACT]

muscular dystrophy, limb-girdle, type 2A [EXACT]

pelvofemoral muscular dystrophy [EXACT]

primary calpainopathy [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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